Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

ABSTRACT:

Importance

Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases are occasionally classified and managed as primary congenital glaucoma.

Objective

To investigate the prevalence of FOXC1 variants in participants with a suspected diagnosis of primary congenital glaucoma.

Design, setting, and participants

Australian and Italian cohorts were recruited from January 1, 2007, through March 1, 2016. Australian individuals were recruited through t

SUBMITTER: Siggs OM 

PROVIDER: S-EPMC6459212 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature